MAX

MYC associated transcriptional regulator X

Summary

The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Known Variants399 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20105211214:65,473,007G/T—likely benign
rs5589690014:65,533,555T/Gdownstream gene variant—
rs52769702514:65,541,886G/A—uncertain significance
rs88605062814:65,541,909A/G—uncertain significance
rs54185156414:65,541,916G/A—uncertain significance
rs74833522814:65,541,918C/G—uncertain significance
rs56251440814:65,541,965G/A—uncertain significance
rs490235714:65,542,067C/G—benign
rs55245907214:65,542,071T/G—benign
rs135762806414:65,542,159G/A—uncertain significance
rs88605062914:65,542,171G/A—uncertain significance
rs11187556914:65,542,251C/T—uncertain significance
rs88605063014:65,542,252G/A—uncertain significance
rs18346785514:65,542,321A/G—uncertain significance
rs490235814:65,542,477A/G—benign
rs13940332514:65,542,494C/A—benign
rs93402103114:65,542,516G/A—uncertain significance
rs19289563114:65,542,578G/A—benign
rs11780231614:65,542,591G/C—likely benign
rs195794914:65,542,607C/T3 prime UTR variantbenign
rs195794814:65,542,629C/T3 prime UTR variantbenign
rs88605063214:65,542,660C/T—uncertain significance
rs88605063314:65,542,691A/C—uncertain significance
rs18342880414:65,542,733G/A—benign
rs4544029214:65,542,789C/T3 prime UTR variantlikely benign
rs490235914:65,542,790G/A3 prime UTR variantbenign
rs53922090514:65,542,819C/T—benign
rs147245634014:65,542,820G/A—uncertain significance
rs56123835314:65,542,850A/T—benign
rs75068012514:65,542,874A/C—uncertain significance
rs56152526614:65,542,897G/A—benign
rs55915434214:65,542,946T/A—benign
rs76270969114:65,543,024G/A—uncertain significance
rs56768052114:65,543,025A/G—uncertain significance
rs19138296014:65,543,050G/A—benign
rs53919344114:65,543,066A/T—benign
rs94979228014:65,543,098G/C—uncertain significance
rs4560433914:65,543,102C/T—benign
rs56629916614:65,543,129C/G—benign
rs76799072614:65,543,150C/T—likely benign
rs19951417414:65,543,187G/A—likely benign
rs213973895014:65,543,192G/A—uncertain significance
rs206305833714:65,543,198C/A—uncertain significance
rs77995807414:65,543,202C/T—uncertain significance
rs213973911114:65,543,203C/T—likely benign
rs250417246414:65,543,204T/C—uncertain significance
rs87665954414:65,543,210C/T—uncertain significance
rs76836071014:65,543,211G/A—uncertain significance
rs120317232014:65,543,215C/T—likely benign
rs250417270214:65,543,217T/C—uncertain significance
rs213973929014:65,543,218C/A—uncertain significance
rs54600687314:65,543,221C/G—uncertain significance
rs250417280014:65,543,223T/C—uncertain significance
rs213973935114:65,543,224G/T—uncertain significance
rs213973937814:65,543,225C/T—uncertain significance
rs206305899514:65,543,227T/C—likely benign
rs250417288514:65,543,228T/C—uncertain significance
rs213973942814:65,543,230G/C—likely benign
rs144178375714:65,543,231G/A—uncertain significance
rs74777855414:65,543,233C/T—likely benign
rs206305950614:65,543,238C/T—uncertain significance
rs125952603114:65,543,239A/G—likely benign
rs250417318214:65,543,240G/C—uncertain significance
rs206305971514:65,543,241G/A—uncertain significance
rs155534018414:65,543,242C/T—likely benign
rs148589993914:65,543,245A/T—likely benign
rs213973976614:65,543,247A/G—uncertain significance
rs77381842714:65,543,248C/G—uncertain significance
rs14578729914:65,543,251C/T—likely benign
rs76014725314:65,543,252G/A—uncertain significance
rs213973987814:65,543,253A/G—uncertain significance
rs115922718914:65,543,255C/G—uncertain significance
rs250417363514:65,543,258G/C—uncertain significance
rs213973991814:65,543,260G/C—uncertain significance
rs213973993714:65,543,261T/A—uncertain significance
rs77239745814:65,543,262C/T—uncertain significance
rs55909067314:65,543,263C/T—likely benign
rs117611878514:65,543,264G/A—conflicting classifications of pathogenicity
rs77169639614:65,543,267C/T—uncertain significance
rs1785227814:65,543,268C/G—uncertain significance
rs76432097514:65,543,269C/T—likely benign
rs250417393214:65,543,270C/T—uncertain significance
rs14049046714:65,543,271C/T—conflicting classifications of pathogenicity
rs135462199514:65,543,272A/G—conflicting classifications of pathogenicity
rs20131269414:65,543,274C/T—uncertain significance
rs76537087014:65,543,275G/A—conflicting classifications of pathogenicity
rs250417408514:65,543,279G/A—uncertain significance
rs75045992914:65,543,280C/T—conflicting classifications of pathogenicity
rs159512713114:65,543,286T/C—uncertain significance
rs213974041514:65,543,287G/A—likely benign
rs156659818014:65,543,289T/C—uncertain significance
rs206306216214:65,543,290G/T—uncertain significance
rs206306225514:65,543,292T/C—uncertain significance
rs155534020114:65,543,293G/T—likely benign
rs213974058014:65,543,295C/T—uncertain significance
rs206306241014:65,543,297T/C—uncertain significance
rs213974064314:65,543,299G/A—likely benign
rs75837030514:65,543,300G/T—uncertain significance
rs77978925114:65,543,301C/T—uncertain significance
rs37023858814:65,543,302G/T—uncertain significance

Showing 100 of 399 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.